Ensembl is currently experiencing issues

The Ensembl REST API is temporarily unavailable. Some gene data (transcript details, protein domains) may be incomplete. Other data sources are unaffected.

You can check Ensembl's status at status.ensembl.org

HMNR11

Chr 19AR

reticulon 2

Also known as: HMNR11, NSP2, NSPL1, NSPLI, SPG12

NCBI Gene: 6253 OMIM: 620854

The protein encoded by this gene is a reticulon family member that localizes to the endoplasmic reticulum and functions in neuroendocrine secretion and membrane trafficking in neuroendocrine cells. Mutations cause autosomal recessive distal hereditary motor neuronopathy type 11 with spasticity, affecting both the motor neuron system and corticospinal tracts. The inheritance pattern is autosomal recessive, contrasting with the autosomal dominant spastic paraplegia-12 mentioned in some sources.

OMIM ResearchSummary from RefSeq, OMIM

This gene belongs to the family of reticulon encoding genes. Reticulons are associated with the endoplasmic reticulum, and are involved in neuroendocrine secretion or in membrane trafficking in neuroendocrine cells. Reticulon proteins also play an important role in the replication of positive-strand RNA (ssRNA) viruses. Mutations at this locus have been associated with autosomal dominant spastic paraplegia-12. [provided by RefSeq, Aug 2020]

OMIM ResearchGenerating clinical summary…

AR1 OMIM phenotype

Clinical Summary— HMNR11

Explore recent and relevant literature in Research Assistant →

Some data sources returned errors (2)

ensembl: Error: Ensembl fetch failed: 400 for /lookup/symbol/homo_sapiens/HMNR11?content-type=application/json&expand=1

gnomad: Error: Gene not found